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Mukhtar

@mukhtarullah.bsky.social

24 followers 13 following 4 posts

PhD in Genetics from IOB, University of Basel. Currently working as a Postdoc in Prof Rivolta lab at IOB

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Reposted by Mukhtar

Carlo Rivolta @carlorivolta.bsky.social · 09/06/2025

Happy to announce that the preprint about Retigene, our new gene atlas for inherited retinal diseases, is now on-line. www.biorxiv.org/content/10.1...

biorxiv.org

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)

Inherited retinal diseases (IRDs) are rare disorders, typically presenting as Mendelian traits, that result in stationary or progressive visual impairment. They are characterized by extensive genetic ...

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Reposted by Mukhtar

IOB - Institute of Molecular and Clinical Ophthalmology Basel @iobswiss.bsky.social · 15/04/2025

🧬IOB researchers (@Mukhtarullah.bsky.social @karkam.bsky.social @carlorivolta.bsky.social @mquinodoz.bsky.social) and international team uncover genetic signatures of eye diseases in Pakistan 📖 doi.org/10.1038/s415... #Genetics #Vision #AcademicSky Image © IOB, generated with Google AI, Gemini

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Mukhtar @mukhtarullah.bsky.social · 15/04/2025

This work lays the groundwork for the development of affordable, population-tailored genetic diagnostic tools, fair access to future gene therapy trials, and a more inclusive understanding of rare diseases globally

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Mukhtar @mukhtarullah.bsky.social · 15/04/2025

Our findings not just add new data but reshape what we know about IRDs in high-consanguineous populations.

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Mukhtar @mukhtarullah.bsky.social · 15/04/2025

In this study, we’ve precisely mapped the genetic causes of inherited retinal diseases (IRDs) in Pakistani patients.

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